Disease Clusters?
Groups of diseases that share a large number of curated genes with each other, computed via label propagation over the shared-gene similarity graph. See also Shared-Gene Disease Pairs for pairwise comparisons.
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Cluster 639
5
Diseases
27
Unique genes
0.170
Avg. similarity score
Intellectual developmental disorder, autosomal dominant 62
Most-connected disease (3 links)
Disease
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Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details ·
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Intellectual developmental disorder, autosomal dominant 62
Marfanoid habitus
Williams syndrome
Very long-chain acyl-coa dehydrogenase deficiency
Leber-like hereditary optic neuropathy, autosomal recessive 1
Member diseases (most connected first ‐ the cluster's core)
| Disease ⇵ | Connections in cluster ⇵ | Significant partners ⇵ | Curated genes ⇵ |
|---|---|---|---|
| Intellectual developmental disorder, autosomal dominant 62 | 3 | 3 | 1 |
| Marfanoid habitus | 3 | 3 | 1 |
| Williams syndrome | 3 | 3 | 24 |
| Very long-chain acyl-coa dehydrogenase deficiency | 2 | 2 | 4 |
| Leber-like hereditary optic neuropathy, autosomal recessive 1 | 1 | 1 | 1 |
Top shared genes (genes linked to 2+ member diseases)
| Gene ⇵ | Member diseases ⇵ | Linked diseases |
|---|---|---|
| DLG4 | 4 / 5 | Intellectual developmental disorder, autosomal dominant 62, Marfanoid habitus, Very long-chain acyl-coa dehydrogenase deficiency, Williams syndrome |
| DNAJC30 | 2 / 5 | Leber-like hereditary optic neuropathy, autosomal recessive 1, Williams syndrome |
What do these columns mean?
- Connections in cluster
- How many other members this disease has a shared-gene link to (the node size in the network above). The most-connected diseases are the cluster's core.
- Significant partners
- How many of those links are statistically significant (FDR q < 0.05).
- Curated genes
- Distinct curated genes linked to that disease in GeDiPNet.
- Member diseases (Top shared genes)
- How many of this cluster's diseases are linked to the gene, out of the cluster's total. Genes shared by many members are the most direct explanation of why they group together.
- Overlap genes (x / y)
- x = genes shared between this cluster and the pathway/GO term; y = that pathway/GO term's total gene count. A higher x relative to y (and to the cluster's own size) means a tighter biological match.
- Cluster gene count
- Total distinct genes across every disease in this cluster -- the "n" used in the significance test below.
- Fold enrichment
- Observed overlap divided by the overlap expected by chance, given the cluster's gene count, the pathway/term's size and the gene universe tested. 5× means five times more shared genes than random. Tells strong hits apart when q-values are all vanishingly small.
- P-value / FDR q-value
- Is this pathway/GO term's overlap with the cluster more than chance? Upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pathway/term (prefer the q-value -- it accounts for testing many at once).
- Shared genes (Pairs within this cluster)
- Number of curated genes the two diseases in that row have in common.
- Similarity score (Pairs within this cluster)
- Jaccard-based gene overlap between the two specific diseases in that row -- same metric as the main Shared-Gene Disease Pairs page.
Enriched Pathways (why this cluster is grouped, biologically)
| Pathway ⇵ | Source ⇵ | Overlap genes ⇵ | Fold enrichment ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| LGI-ADAM interactions | Reactome | 2 / 14 | 63.5× | 4.36e-4 | 6.00e-3 ✓ sig. |
| PCP/CE pathway | Reactome | 2 / 18 | 49.4× | 7.28e-4 | 8.91e-3 ✓ sig. |
| PKA-mediated phosphorylation of key metabolic factors | Reactome | 1 / 1 | 445× | 2.25e-3 | 2.07e-2 ✓ sig. |
| Fatty acid degradation | KEGG | 2 / 43 | 20.7× | 4.15e-3 | 3.21e-2 ✓ sig. |
| Hippo signaling pathway | KEGG | 3 / 157 | 8.5× | 5.09e-3 | 3.69e-2 ✓ sig. |
| Toxicity of botulinum toxin type C (BoNT/C) | Reactome | 1 / 3 | 148× | 6.73e-3 | 4.43e-2 ✓ sig. |
| Beta oxidation of myristoyl-CoA to lauroyl-CoA | Reactome | 1 / 3 | 148× | 6.73e-3 | 4.43e-2 ✓ sig. |
| Beta oxidation of palmitoyl-CoA to myristoyl-CoA | Reactome | 1 / 3 | 148× | 6.73e-3 | 4.43e-2 ✓ sig. |
| Fatty acid metabolism | KEGG | 2 / 57 | 15.6× | 7.20e-3 | 4.63e-2 ✓ sig. |
| Asymmetric localization of PCP proteins | Reactome | 2 / 62 | 14.3× | 8.47e-3 | 5.13e-2 |
| Basal cell carcinoma | KEGG | 2 / 63 | 14.1× | 8.74e-3 | 5.23e-2 |
| Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA | Reactome | 1 / 5 | 89.0× | 1.12e-2 | 6.09e-2 |
| mitochondrial fatty acid beta-oxidation of unsaturated fatty acids | Reactome | 1 / 6 | 74.1× | 1.34e-2 | 6.79e-2 |
| ChREBP activates metabolic gene expression | Reactome | 1 / 7 | 63.5× | 1.56e-2 | 7.44e-2 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | Reactome | 1 / 7 | 63.5× | 1.56e-2 | 7.44e-2 |
Enriched GO Terms (Biological Process, a second line of biological evidence)
| GO term ⇵ | GO ID ⇵ | Overlap genes ⇵ | Fold enrichment ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| positive regulation of neuron projection arborization | GO:0150012 | 2 / 8 | 173× | 5.60e-5 | 2.01e-3 ✓ sig. |
| negative regulation of fatty acid oxidation | GO:0046322 | 2 / 10 | 138× | 8.98e-5 | 2.86e-3 ✓ sig. |
| fatty acid beta-oxidation using acyl-CoA dehydrogenase | GO:0033539 | 2 / 11 | 126× | 1.10e-4 | 3.30e-3 ✓ sig. |
| regulation of cholesterol metabolic process | GO:0090181 | 2 / 15 | 92.3× | 2.09e-4 | 5.24e-3 ✓ sig. |
| temperature homeostasis | GO:0001659 | 2 / 23 | 60.2× | 4.99e-4 | 9.47e-3 ✓ sig. |
| negative regulation of fatty acid biosynthetic process | GO:0045717 | 2 / 24 | 57.7× | 5.44e-4 | 1.00e-2 ✓ sig. |
| stress fiber assembly | GO:0043149 | 2 / 24 | 57.7× | 5.44e-4 | 1.00e-2 ✓ sig. |
| positive regulation of excitatory postsynaptic potential | GO:2000463 | 2 / 32 | 43.3× | 9.71e-4 | 1.43e-2 ✓ sig. |
| non-canonical Wnt signaling pathway | GO:0035567 | 2 / 33 | 41.9× | 1.03e-3 | 1.49e-2 ✓ sig. |
| Wnt signaling pathway, planar cell polarity pathway | GO:0060071 | 2 / 34 | 40.7× | 1.10e-3 | 1.54e-2 ✓ sig. |
| transition between slow and fast fiber | GO:0014886 | 1 / 1 | 692× | 1.44e-3 | 1.79e-2 ✓ sig. |
| carnitine catabolic process | GO:0042413 | 1 / 1 | 692× | 1.44e-3 | 1.79e-2 ✓ sig. |
| negative regulation of mitotic chromosome condensation | GO:1905213 | 1 / 2 | 346× | 2.89e-3 | 2.55e-2 ✓ sig. |
| negative regulation of mitotic cell cycle, embryonic | GO:0045976 | 1 / 2 | 346× | 2.89e-3 | 2.55e-2 ✓ sig. |
| regulation of respiratory burst involved in inflammatory response | GO:0060264 | 1 / 2 | 346× | 2.89e-3 | 2.55e-2 ✓ sig. |
Pairs within this cluster, by significance
| Disease A ⇵ | Disease B ⇵ | Similarity score ⇵ | Shared genes ⇵ | P-value ⇵ | FDR q-value ⇵ |
|---|---|---|---|---|---|
| Intellectual developmental disorder, autosomal dominant 62 | Marfanoid habitus | 0.500 | 1 | 6.46e-5 | 1.98e-4 ✓ sig. |
| Intellectual developmental disorder, autosomal dominant 62 | Very long-chain acyl-coa dehydrogenase deficiency | 0.200 | 1 | 2.58e-4 | 5.38e-4 ✓ sig. |
| Marfanoid habitus | Very long-chain acyl-coa dehydrogenase deficiency | 0.200 | 1 | 2.58e-4 | 5.38e-4 ✓ sig. |
| Intellectual developmental disorder, autosomal dominant 62 | Williams syndrome | 0.040 | 1 | 1.55e-3 | 2.19e-3 ✓ sig. |
| Leber-like hereditary optic neuropathy, autosomal recessive 1 | Williams syndrome | 0.040 | 1 | 1.55e-3 | 2.19e-3 ✓ sig. |
| Marfanoid habitus | Williams syndrome | 0.040 | 1 | 1.55e-3 | 2.19e-3 ✓ sig. |